NM_001114753.3(ENG):c.527del (p.Gln176fs) AND Hereditary hemorrhagic telangiectasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 19, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001238767.5

Allele description [Variation Report for NM_001114753.3(ENG):c.527del (p.Gln176fs)]

NM_001114753.3(ENG):c.527del (p.Gln176fs)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.527del (p.Gln176fs)

HGVS:

NC_000009.12:g.127825857del
NG_009551.1:g.33912del
NM_000118.4:c.527delA
NM_001114753.3:c.527delMANE SELECT
NM_001278138.2:c.-20del
NM_001406715.1:c.527delA
NP_000109.1:p.Gln176Argfs
NP_000109.1:p.Gln176fs
NP_001108225.1:p.Gln176Argfs
NP_001108225.1:p.Gln176fs
NP_001393644.1:p.Gln176Argfs
LRG_589t1:c.527del
LRG_589t2:c.527del
LRG_589:g.33912del
LRG_589p1:p.Gln176fs
LRG_589p2:p.Gln176Argfs
NC_000009.11:g.130588136del
NM_000118.3:c.527del
NM_001114753.2:c.527delA

Protein change:

Q176fs

Links:

dbSNP: rs1830603743

NCBI 1000 Genomes Browser:

rs1830603743

Molecular consequence:

NM_001278138.2:c.-20del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000118.4:c.527delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114753.3:c.527del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406715.1:c.527delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary hemorrhagic telangiectasia (HHT)
Synonyms:: Osler Weber Rendu syndrome; ORW disease; Osler-Rendu-Weber disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0019180; MedGen: C0039445; OMIM: PS187300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001411596	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 19, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15879500, 20656886, 22385575, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001411596

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 19, 2019)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA, Letarte M.

J Med Genet. 2006 Feb;43(2):97-110. Epub 2005 May 6. Review.

PubMed [citation]

PMID:: 15879500
PMCID:: PMC2603035

The physiological role of endoglin in the cardiovascular system.

López-Novoa JM, Bernabeu C.

Am J Physiol Heart Circ Physiol. 2010 Oct;299(4):H959-74. doi: 10.1152/ajpheart.01251.2009. Epub 2010 Jul 23. Review.

PubMed [citation]

PMID:: 20656886

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001411596.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). This variant has not been reported in the literature in individuals with ENG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln176Argfs*46) in the ENG gene. It is expected to result in an absent or disrupted protein product.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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